Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32266 | 97021;97022;97023 | chr2:178543177;178543176;178543175 | chr2:179407904;179407903;179407902 |
| N2AB | 30625 | 92098;92099;92100 | chr2:178543177;178543176;178543175 | chr2:179407904;179407903;179407902 |
| N2A | 29698 | 89317;89318;89319 | chr2:178543177;178543176;178543175 | chr2:179407904;179407903;179407902 |
| N2B | 23201 | 69826;69827;69828 | chr2:178543177;178543176;178543175 | chr2:179407904;179407903;179407902 |
| Novex-1 | 23326 | 70201;70202;70203 | chr2:178543177;178543176;178543175 | chr2:179407904;179407903;179407902 |
| Novex-2 | 23393 | 70402;70403;70404 | chr2:178543177;178543176;178543175 | chr2:179407904;179407903;179407902 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs773092840  |
-0.865 | 1.0 | N | 0.689 | 0.401 | 0.624938293356 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs773092840 |
-0.865 | 1.0 | N | 0.689 | 0.401 | 0.624938293356 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77331E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs933521240 |
-0.518 | 1.0 | N | 0.661 | 0.525 | 0.270889551736 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| S/P | rs933521240 |
-0.518 | 1.0 | N | 0.661 | 0.525 | 0.270889551736 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| S/P | rs933521240 |
-0.518 | 1.0 | N | 0.661 | 0.525 | 0.270889551736 | gnomAD-4.0.0 | 4.95865E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78159E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0812 | likely_benign | 0.0736 | benign | -0.189 | Destabilizing | 0.997 | D | 0.407 | neutral | N | 0.486542529 | None | None | N |
| S/C | 0.1273 | likely_benign | 0.116 | benign | -0.279 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.47321889 | None | None | N |
| S/D | 0.3941 | ambiguous | 0.3936 | ambiguous | 0.056 | Stabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| S/E | 0.5575 | ambiguous | 0.5587 | ambiguous | -0.055 | Destabilizing | 0.999 | D | 0.636 | neutral | None | None | None | None | N |
| S/F | 0.2685 | likely_benign | 0.223 | benign | -0.94 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.505821723 | None | None | N |
| S/G | 0.0698 | likely_benign | 0.0678 | benign | -0.231 | Destabilizing | 0.999 | D | 0.44 | neutral | None | None | None | None | N |
| S/H | 0.3324 | likely_benign | 0.3317 | benign | -0.589 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| S/I | 0.3071 | likely_benign | 0.2532 | benign | -0.209 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| S/K | 0.6535 | likely_pathogenic | 0.6561 | pathogenic | -0.334 | Destabilizing | 0.999 | D | 0.636 | neutral | None | None | None | None | N |
| S/L | 0.1347 | likely_benign | 0.112 | benign | -0.209 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| S/M | 0.2281 | likely_benign | 0.1916 | benign | -0.112 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| S/N | 0.1437 | likely_benign | 0.1332 | benign | -0.049 | Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | N |
| S/P | 0.4842 | ambiguous | 0.4651 | ambiguous | -0.178 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.491737705 | None | None | N |
| S/Q | 0.4946 | ambiguous | 0.4851 | ambiguous | -0.289 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| S/R | 0.6004 | likely_pathogenic | 0.6028 | pathogenic | -0.094 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| S/T | 0.1138 | likely_benign | 0.0974 | benign | -0.171 | Destabilizing | 0.999 | D | 0.455 | neutral | N | 0.491564346 | None | None | N |
| S/V | 0.2523 | likely_benign | 0.2117 | benign | -0.178 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| S/W | 0.3952 | ambiguous | 0.377 | ambiguous | -1.017 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| S/Y | 0.2162 | likely_benign | 0.2033 | benign | -0.699 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.516692077 | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.